Nicholas S. Marinakis

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition

Catherine A. Brownstein, Meghan C. Towne, Lovelace J. Luquette et al. · European Journal of Medical Genetics · 2013 · 96 citations · Full text

Unique Vascular Abnormalities, Channelopathies, Molecular Physiology +6

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

Mugdha Joshi, Jacqueline Eagan, Nirav K. Desai et al. · European Journal of Human Genetics · 2014 · 50 citations · Full text

Gpd1 Causes Hepatomegaly, Metabolic Syndrome, Compound Heterozygous Mutation +11

Expanding the Phenotype Associated With the<i>NEFL</i>Mutation

Pankaj B. Agrawal, Mugdha Joshi, Nicholas S. Marinakis et al. · JAMA Neurology · 2014 · 43 citations · Full text